HGVS | Genome Assembly |
---|---|
NC_000005.10:g.112707530C>T , CM000667.2:g.112707530C>T | GRCh38 |
NC_000005.9:g.112043227C>T , CM000667.1:g.112043227C>T | GRCh37 |
NC_000005.8:g.112071126C>T | NCBI36 |
NG_008481.4:g.20010C>T , LRG_130:g.20010C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000505350.2:c.-188C>T | ENSP00000481752.1:n.-188C>T | |
ENST00000507379.6:c.-188C>T | ENSP00000423224.2:n.-188C>T | |
ENST00000509732.6:c.-138C>T | ENSP00000426541.2:n.-138C>T | |
ENST00000505350.1:c.-188C>T | ENSP00000481752.1:n.-188C>T | |
ENST00000507379.5:c.-188C>T | ENSP00000423224.1:n.-188C>T | |
ENST00000509732.5:c.-138C>T | ENSP00000426541.1:n.-138C>T | |
NM_001127511.2:c.-188C>T | NP_001120983.2:n.-188C>T | |
NM_001354895.1:c.-371C>T | NP_001341824.1:n.-371C>T | |
NM_001354897.1:c.-188C>T | NP_001341826.1:n.-188C>T | |
NM_001354902.1:c.-188C>T | NP_001341831.1:n.-188C>T | |
NM_001127511.3:c.-188C>T | NP_001120983.2:n.-188C>T | |
NM_001354895.2:c.-371C>T | NP_001341824.1:n.-371C>T | |
NM_001354897.2:c.-188C>T | NP_001341826.1:n.-188C>T | |
NM_001354902.2:c.-188C>T | NP_001341831.1:n.-188C>T |